| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v1.23 | FGFR3 | chirag patel Phenotypes for gene: FGFR3 were changed from Crouzon syndrome with acanthosis nigricans 612247; Thanatophoric dysplasia, type II 187601; Thanatophoric dysplasia, type I 187600; SADDAN 616482; LADD syndrome 149730; Achondroplasia 100800; Hypochondroplasia 146000; Muenke syndrome 602849; CATSHL syndrome 610474 to achondroplasia MONDO:0007037; Thanatophoric dysplasia type 1 MONDO:0008546; Thanatophoric dysplasia type 2 MONDO:0008547; hypochondroplasia MONDO:0007793; Muenke syndrome MONDO:0011274; FGFR3-related chondrodysplasia MONDO:0019685; severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0014658; Crouzon syndrome-acanthosis nigricans syndrome MONDO:0012833; camptodactyly-tall stature-scoliosis-hearing loss syndrome MONDO:0012504 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.0 | ACAN | Gene migrated from ENSG00000157766 to ENSG00000157766 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.348 | ACAN | Zornitza Stark Marked gene: ACAN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.348 | ACAN | Zornitza Stark Gene: acan has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.348 | ACAN | Zornitza Stark Publications for gene: ACAN were set to 24762113 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.0 | FGFR3 |
Zornitza Stark gene: FGFR3 was added gene: FGFR3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: FGFR3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FGFR3 were set to Crouzon syndrome with acanthosis nigricans 612247; Thanatophoric dysplasia, type II 187601; Thanatophoric dysplasia, type I 187600; SADDAN 616482; LADD syndrome 149730; Achondroplasia 100800; Hypochondroplasia 146000; Muenke syndrome 602849; CATSHL syndrome 610474 |
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| Skeletal dysplasia v0.0 | ACAN |
Zornitza Stark gene: ACAN was added gene: ACAN was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ACAN were set to 24762113 Phenotypes for gene: ACAN were set to Spondyloepiphyseal dysplasia, Kimberley type 608361; Osteochondritis dissecans, short stature, and early-onset osteoarthritis 165800; Spondyloepimetaphyseal dysplasia, aggrecan type 61283 |
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